Detalhe da pesquisa
1.
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Genet Med
; 24(8): 1774-1780, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567594
2.
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.
J Genet Couns
; 28(2): 466-476, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706981
3.
Pharmacological inhibition of apical sodium-dependent bile acid transporter changes bile composition and blocks progression of sclerosing cholangitis in multidrug resistance 2 knockout mice.
Hepatology
; 63(2): 512-23, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26172874
4.
Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations.
J Med Genet
; 52(7): 438-45, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25904639
5.
Rapid Genome Sequencing in the Critically Ill.
Clin Chem
; 65(6): 723-726, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842082
6.
Harmonization of transcriptomic and methylomic analysis in environmental epidemiology studies for potential application in chemical risk assessment.
Environ Int
; 164: 107278, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35537365
7.
Connecting omics signatures and revealing biological mechanisms with iLINCS.
Nat Commun
; 13(1): 4678, 2022 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35945222
8.
The Library of Integrated Network-Based Cellular Signatures NIH Program: System-Level Cataloging of Human Cells Response to Perturbations.
Cell Syst
; 6(1): 13-24, 2018 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29199020
9.
The Development of Spasmolytic Polypeptide/TFF2-Expressing Metaplasia (SPEM) During Gastric Repair Is Absent in the Aged Stomach.
Cell Mol Gastroenterol Hepatol
; 2(5): 605-624, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27990460
10.
Cognitive Performance Scores for the Pediatric Automated Neuropsychological Assessment Metrics in Childhood-Onset Systemic Lupus Erythematosus.
Arthritis Care Res (Hoboken)
; 67(8): 1119-27, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25708844
11.
A Quantitative Assessment of Tremor and Ataxia in Female FMR1 Premutation Carriers Using CATSYS.
Curr Gerontol Geriatr Res
; 2011: 484713, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-23008705